Linked Data
ClinVar Variation Id:
1489784
ClinVar RCV Id:
RCV001983435
dbSNP Id:
rs1436718402
gnomAD v2:
5-131726591-C-T
gnomAD v3:
5-132390899-C-T
gnomAD v4:
5-132390899-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132390899C>T , CM000667.2:g.132390899C>T | GRCh38 |
| NC_000005.9:g.131726591C>T , CM000667.1:g.131726591C>T | GRCh37 |
| NC_000005.8:g.131754490C>T | NCBI36 |
| NG_008982.1:g.26191C>T | |
| NG_008982.2:g.26196C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000415928.6:c.1103C>T | ENSP00000388838.2:p.Pro368Leu | |
| ENST00000435065.7:c.1334C>T | ENSP00000402760.2:p.Pro445Leu | |
| ENST00000448810.6:c.*114C>T | ENSP00000401860.2:n.*114C>T | |
| ENST00000685543.1:n.1403C>T | ||
| ENST00000686757.1:c.*426C>T | ENSP00000510721.1:n.*426C>T | |
| ENST00000687740.1:n.3947C>T | ||
| ENST00000688151.1:n.2572C>T | ||
| ENST00000689271.1:c.1109C>T | ENSP00000510797.1:p.Pro370Leu | |
| ENST00000690900.1:c.*426C>T | ENSP00000510703.1:n.*426C>T | |
| ENST00000692212.1:n.2874C>T | ||
| ENST00000692355.1:c.515C>T | ||
| ENST00000692413.1:c.1244C>T | ENSP00000509374.1:p.Pro415Leu | |
| ENST00000692825.1:c.1330C>T | ENSP00000509447.1:n.1330C>T | |
| ENST00000693308.1:c.1310C>T | ENSP00000509770.1:p.Pro437Leu | |
| ENST00000693763.1:n.2422C>T | ||
| ENST00000245407.8:c.1262C>T MANE Select | ENSP00000245407.3:p.Pro421Leu | |
| ENST00000245407.7:c.1262C>T | ENSP00000245407.3:p.Pro421Leu | |
| ENST00000435065.6:c.1334C>T | ENSP00000402760.2:p.Pro445Leu | |
| ENST00000447841.5:c.112-1534C>T | ||
| ENST00000448810.5:c.524C>T | ||
| ENST00000461013.5:n.8684C>T | ||
| ENST00000475308.1:n.1940C>T | ||
| ENST00000479605.5:n.365C>T | ||
| NM_001308122.1:c.1334C>T | NP_001295051.1:p.Pro445Leu | |
| NM_003060.3:c.1262C>T | NP_003051.1:p.Pro421Leu | |
| XM_011543590.1:c.644C>T | XP_011541892.1:p.Pro215Leu | |
| XR_427718.1:n.1622C>T | ||
| XR_948290.1:n.1394-1534C>T | ||
| XR_948291.1:n.1616C>T | ||
| XM_011543590.2:c.644C>T | XP_011541892.1:p.Pro215Leu | |
| XM_017009778.2:c.734C>T | XP_016865267.1:p.Pro245Leu | |
| XR_001742215.1:n.1517C>T | ||
| XR_001742216.1:n.1536C>T | ||
| XR_427718.2:n.1622C>T | ||
| XR_948290.2:n.1394-1534C>T | ||
| XR_948291.2:n.1616C>T | ||
| NM_003060.4:c.1262C>T MANE Select | NP_003051.1:p.Pro421Leu | |
| NM_001308122.2:c.1334C>T | NP_001295051.1:p.Pro445Leu |